19-39245644-CATATATATATATATATAT-CATATATATATATAT

Position:

• chr19-39245644-CATATATATATATATATAT-CATATATATATATAT

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.035 (247 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.108 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0351 AC: 4818 AN: 137414 Hom.: 247 Cov.: 0

Gnomad AFR AF: 0.111

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0153

Gnomad ASJ AF: 0.00150

Gnomad EAS AF: 0.00241

Gnomad SAS AF: 0.000969

Gnomad FIN AF: 0.0112

Gnomad MID AF: 0.0101

Gnomad NFE AF: 0.00500

Gnomad OTH AF: 0.0274

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0351 AC: 4830 AN: 137468 Hom.: 247 Cov.: 0 AF XY: 0.0349 AC XY: 2302 AN XY: 65946

Gnomad4 AFR AF: 0.111

Gnomad4 AMR AF: 0.0153

Gnomad4 ASJ AF: 0.00150

Gnomad4 EAS AF: 0.00264

Gnomad4 SAS AF: 0.000973

Gnomad4 FIN AF: 0.0112

Gnomad4 NFE AF: 0.00500

Gnomad4 OTH AF: 0.0278

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs67461793; hg19: chr19-39736284;